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目的探讨儿童结节性硬化症合并癫的临床特征。方法对36例结节性硬化症合并癫患儿的临床资料进行分析。结果所有患儿均以癫发作为首发症状,发病年龄<1岁23例(63.89%)、1~3岁8例(22.22%)、>3岁5例(13.89%);发作类型以部分性发作[12例(33.33%)]、全面性发作[5例(13.89%)]、痉挛发作[7例(19.44%)]和混合性发作[12例(33.33%)]为主,其中伴智力低下或发育落后者19例(67.86%)。MRI可见室管膜下结节(30例),部分病例[26例(86.67%)]伴皮质和皮质下结节、室管膜下巨细胞型星形细胞瘤2例(6.67%)或巨脑回畸形1例(3.33%)。脑电图显示发作间期样放电[34例(94.44%)],表现为多灶性放电[12例(35.29%)]、广泛性放电[8例(23.53%)]、局限性放电[7例(20.59%)]和高度失律[7例(20.59%)];其中8例监测到临床发作,包括痉挛发作(4例)、局灶性发作(3例)、肌阵挛发作(1例)。17例患儿(47.22%)服用1种抗癫药物、12例(33.33%)服用2种药物、7例(19.44%)服用3种药物,其中手术治疗1例;随访0.50~10年,无发作7例(19.44%),有效16例(44.44%),无效13例(36.11%)。结论癫发作是儿童结节性硬化症最常见的神经系统表现,多在婴儿期发病,主要发作类型为部分性发作和痉挛发作,多数患儿抗癫药物治疗有效。
Objective To investigate the clinical features of childhood tuberous sclerosis complicated with epilepsy. Methods The clinical data of 36 children with tuberous sclerosis complicated with epilepsy were analyzed. Results All patients had epileptic onset as the first symptom. The age of onset was 23 (63.89%) <1 years old, 8 cases (22.22%) were 1-3 years old and 5 (13.89%) were> 3 years old. Seizures [7 cases (19.44%]] and mixed seizures [12 cases (33.33%]], of which 12 cases (33.33%) were complicated by seizure [5 cases (13.89% 19 cases (67.86%) had mental retardation or underdevelopment. MRI showed subependymal nodules (30 cases), in some cases [26 cases (86.67%)] with cortical and subcortical nodules, subependymal giant cell type astrocytoma in 2 cases (6.67%) or giant 1 case of abnormal brain (3.33%). Electroencephalogram showed interphase discharge [34 patients (94.44%)], manifested as multifocal discharge [12 patients (35.29%]], extensive discharge [8 patients (23.53%)], localized discharge [7 (20.59%) and a high degree of irregularity (7 cases, 20.59%). Eight of the eight cases were clinically detected including seizures (4), focal seizures (3), myoclonic seizures example). Seventeen children (47.22%) took one kind of antiepileptic drugs, 12 (33.33%) took two kinds of drugs, seven (19.44%) took three kinds of drugs, of which one case was treated by surgery; Seven cases (19.44%) had no attack, 16 cases (44.44%) were effective and 13 cases (36.11%) were ineffective. Conclusion Epileptic seizures are the most common neurological manifestations of childhood tuberous sclerosis. Most of them are infants. The main seizure types are partial seizures and spastic seizures. Most of the children have anti-seizure drug treatment effective.